After being married just a few months, Bryan and Casey Kirsch, both 36, were overjoyed to find out they were pregnant with their first child.

It was 2010 and the Hoboken, N.J., couple was enjoying a normal and healthy pregnancy, until they received devastating news after their 12-week ultrasound.    

 “It looks like the baby has something called an omphalocele,” her doctor explained, then immediately referred her to a specialist.  

“His last words were, ‘I’m so sorry,’” Casey recalled.

Casey and Bryan immediately started to research omphalocele (pronounced uhm-fa-lo-seal), a congenital abdominal wall defect whereby the baby’s anterior abdominal wall fails to close, said Dr. Holly L. Hedrick, an attending pediatric and fetal surgeon at The Children’s Hospital of Philadelphia (CHOP). Hedrick would later be the surgeon who cared for their baby.

The couple was shocked to learn that the birth defect was linked to heart defects and genetic disorders, among other serious conditions.

“I sat in the corner of my couch and I sobbed all night,” Casey said. “We were both so distraught and neither of us were strong enough to lean on each other.”  

The next day, the family found out that their baby had what’s known as a giant omphalocele. Although there isn’t an exact definition of the defect, the distinction is that the liver or a portion of the liver is outside of the abdominal wall. The intestines and stomach can be outside of the abdominal cavity as well, Hedrick said.

“A thin layer of skin will cover the abdominal wall defect but they still have a big hole in their abdomen so they don’t have the strong muscle and fascia to keep everything inside,” said Dr. Benjamin Padilla, a pediatric surgeon at the University of California San Francisco’s Benioff Children's Hospital.

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The diagnosis of a giant omphalocele is rare and it affects approximately 1 in 10,000 babies and is more common in boys than girls. Sadly, between 30 and 50 percent of babies will die from it. In addition, some moms will choose to terminate the pregnancy.

Although there are no known genetic or environmental risk factors, women over 35 have a greater risk for having a baby with the defect. Omphalocele is also associated with other chromosomal abnormalities like trisomy 13, 18 and 21, or Down syndrome, but these are more common in babies with small omphaloceles, Padilla said.

Risks to the baby
Babies with giant omphalocele are vulnerable to a host of complications both in the early days and throughout their lives.

Since the lungs do not develop properly, babies are at risk for developing pulmonary hypoplasia, a condition whereby the lungs are abnormally small. Babies may need oxygen, a ventilator or a tracheostomy, a surgical procedure that creates a hole in the windpipe so they can breathe.

Approximately one-third of affected babies will also develop pulmonary hypertension, a type of high blood pressure which can affect the heart and lungs and can be life-threatening. Pulmonary hypertension is also under-recognized, so babies may be sent home and then have problems later, Hedrick said.  

Babies with giant omphalocele who require IV nutrition may also develop problems with their livers. 

They can also develop hernias and have developmental and cognitive delays throughout their lives. In fact, a study in the Journal of Pediatric Surgery found that about 40 percent of babies between 6- and 26-months-old had severe cognitive, language, and motor delays and 13 percent had autism.

It’s unclear however, if these delays are directly related to the birth defect itself or to prolonged hospitalization, which can be anywhere between three and 12 months, Padilla said.

“We felt hopeless”
At 18 weeks, Casey and Bryan went to CHOP, where Casey underwent an entire day of testing and meetings with doctors. A fetal MRI confirmed that their baby’s liver, spleen, bowel and intestines were all outside of his body.

Although they had a lot of information, they still wouldn’t know how thin the membrane was, if the baby’s lungs would be developed and if he’d be able to breathe on his own.  

Though they felt hopeless, the couple decided that when the baby was born, they would opt for the “paint and wait,” treatment.

Instead of having surgery immediately, doctors wait as the baby grew and got stronger and treat the amnion (the membrane) with antibiotic cream and dressing changes to prevent infection and protect the abdominal wall contents. The amnion then scars in so the skin can grow over it and later be closed with surgery, Hedrick said.

“For some babies their abdominal wall defect isn’t as big and sometimes we can close it shortly after they’re born,” Hedrick said.

Jackson is born
Although Casey was scheduled for a Cesarean section at 37 weeks, she went into early labor at 35 weeks.

When Jackson Frederick was born, Casey heard a cry.

“Is that my baby?,” she asked, since she was told he would have to be intubated. “Immediately when I heard him cry I said, ‘He’s going to be ok.’”

For six long days, Casey and Bryan couldn’t hold Jackson and doctors weren’t sure if he would live. He also needed oxygen and several blood transfusions.  

Yet Jackson continued to get stronger and defy the odds. Bryan and Casey were prepared for Jackson to be in the hospital between six and 9 months, Jackson went home after just eight weeks.

Once home, Jackson underwent early intervention services, which were to continue until he had closure surgery at age 2.

 “We were determined to have Jackson have as normal a life and as good of a chance as possible,” Casey said.

Then at six months, Jackson suffered a setback and had emergency surgery for an incarcerated hernia. His parents revealed that he almost died.

Hedrick thought Jackson wouldn’t undergo the closure surgery until he was 3, but then he proved them wrong again, having the surgery the day before his first birthday.  Five days later, he was home.

Hope for the future
With consistent monitoring, early intervention and the right support, experts agree children with giant omphaloceles can live healthy, productive lives.

Today, Jackson is a smart, happy and determined four year old who attends preschool and has reached all of his developmental milestones.

Although their journey hasn’t been easy, Bryan and Casey said it has made their relationship stronger and given them renewed hope for the future.  

“I feel like I can do anything because now we have this baby who basically stared in the face of adversity and laughed,” Casey said.

Julie Revelant is a health journalist and a consultant who provides content marketing and copywriting services for the healthcare industry. She's also a mom of two. Learn more about Julie at revelantwriting.com.